gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104801767G>C , CM000676.2:g.104801767G>C | GRCh38 |
| NC_000014.8:g.105268104G>C , CM000676.1:g.105268104G>C | GRCh37 |
| NC_000014.7:g.104339149G>C | NCBI36 |
| NG_042073.1:g.5587G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342537.8:c.570G>C MANE Select | ENSP00000409107.2:p.Leu190= | |
| ENST00000342537.7:c.570G>C | ENSP00000409107.2:p.Leu190= | |
| ENST00000555360.1:c.570G>C | ENSP00000450673.1:p.Leu190= | |
| NM_001137601.1:c.570G>C | NP_001131073.1:p.Leu190= | |
| NM_001137601.2:c.570G>C | NP_001131073.1:p.Leu190= | |
| XM_017020911.1:c.570G>C | XP_016876400.1:p.Leu190= | |
| NM_001137601.3:c.570G>C MANE Select | NP_001131073.1:p.Leu190= | |
| NM_001370342.1:c.570G>C | NP_001357271.1:p.Leu190= |